A group of Spanish researchers has managed to improve the condition of a patient with a variant of epidermolysis bullosa, accompanied by muscular dystrophy.
Blisters can appear in response to minor injury, including heat, rubbing friction, or scratching. Photo: Shutterstock.
Epidermolysis refers to a number of rare diseases that ocasionan a fur fragile, with blisters. These can even appear against heat, friction or scratchingas well as can appear inside the body, such as in the mouth or stomach.
Most of the time, epidermolysis it is hereditary and manifests during childhood or the first years of lifebut there are those who manifest the first symptoms in adolescence or early adulthood.
Although there is no cure for epidermolysis, mild manifestations may improve with age. Treatment is focused on taking care of existing blisters and prevention against the possibility of the appearance of new blisters.
Symptoms can vary, but it is generally characterized by a fur fragile with blistersthick nails or that do not form, blisters in the throat or inside the mouth, thickening of the skin on the palms of the hands or the soles of the feet, blisters on the scalp, fur very thin, dental problems, difficulty swallowing, itching and pain in the fur.
In it studyresearchers from the Research Chair of the Carlos III University of Madrid, the Center for Energy, Environmental and Technological Research, among others, participated.
Epidermolysis bullosa, with muscular dystrophy, is a disorder caused by mutations in the plectin genetherefore, in addition to the fragility in the fur, patients develop progressive skeletal muscle weakness and respiratory, which negatively impacts their quality of life, increasing morbidity and mortality.
In the work developed the use of gentamicin was evaluated as a compound, capable of suppressing the consequences of mutations. Researcher María José Escámez coordinated a group made up of basic and clinical researchers, who made possible the treatment of this condition.
The work reported the efficacy of gentamicin at the time of achieving a significant production of plectin in cells of the furwhat’s more, an increase in plectin levels in the skin was obtained and a slight improvement in the weakness of the muscles skeletal and respiratory.
Escámez stated, “This study reveals the potential value of gentamicin as a therapy for epidermolysis bullosa.”